NMNAT1

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes an enzyme which catalyzes a key step in the biosynthesis of nicotinamide adenine dinucleotide (NAD). The encoded enzyme is one of several nicotinamide nucleotide adenylyltransferases, and is specifically localized to the cell nucleus. Activity of this protein leads to the activation of a nuclear deacetylase that functions in the protection of damaged neurons. Mutations in this gene have been associated with Leber congenital amaurosis 9. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14, and 15. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA deamination (GO:0045006)6.85198609
2behavioral response to nicotine (GO:0035095)6.39253953
3response to pheromone (GO:0019236)5.39219730
4L-fucose catabolic process (GO:0042355)5.38883763
5fucose catabolic process (GO:0019317)5.38883763
6L-fucose metabolic process (GO:0042354)5.38883763
7ribosomal small subunit assembly (GO:0000028)5.20235895
8telomere maintenance via semi-conservative replication (GO:0032201)5.10820662
9ribosomal small subunit biogenesis (GO:0042274)4.89407962
10DNA strand elongation involved in DNA replication (GO:0006271)4.57213679
11telomere maintenance via recombination (GO:0000722)4.54661554
12viral transcription (GO:0019083)4.48123208
13DNA strand elongation (GO:0022616)4.38364446
14proteasome assembly (GO:0043248)4.38223728
15translational termination (GO:0006415)4.34995605
16ribosomal large subunit biogenesis (GO:0042273)4.30209324
17kynurenine metabolic process (GO:0070189)4.18211437
18maturation of SSU-rRNA (GO:0030490)4.18019563
19tryptophan catabolic process (GO:0006569)4.14413394
20indole-containing compound catabolic process (GO:0042436)4.14413394
21indolalkylamine catabolic process (GO:0046218)4.14413394
22DNA replication checkpoint (GO:0000076)4.07602944
23DNA replication initiation (GO:0006270)4.06324617
24SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.03238674
25mitotic recombination (GO:0006312)3.98446531
26termination of RNA polymerase III transcription (GO:0006386)3.97859716
27transcription elongation from RNA polymerase III promoter (GO:0006385)3.97859716
28cotranslational protein targeting to membrane (GO:0006613)3.95605438
29protein targeting to ER (GO:0045047)3.90958060
30regulation of nuclear cell cycle DNA replication (GO:0033262)3.88960630
31telomere maintenance via telomere lengthening (GO:0010833)3.88571885
32deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.85514884
33indolalkylamine metabolic process (GO:0006586)3.84140467
34ribonucleoprotein complex biogenesis (GO:0022613)3.84128420
35CENP-A containing nucleosome assembly (GO:0034080)3.78176001
36regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.75125296
37protein localization to endoplasmic reticulum (GO:0070972)3.75067663
38translational elongation (GO:0006414)3.73164065
39epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.72652847
40rRNA modification (GO:0000154)3.71340998
41establishment of protein localization to endoplasmic reticulum (GO:0072599)3.70189515
42chromatin remodeling at centromere (GO:0031055)3.68138616
43pseudouridine synthesis (GO:0001522)3.65043302
44exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.57956599
45cellular ketone body metabolic process (GO:0046950)3.56893096
46rRNA processing (GO:0006364)3.48135354
47tryptophan metabolic process (GO:0006568)3.47200935
48deoxyribonucleotide biosynthetic process (GO:0009263)3.45632218
49platelet dense granule organization (GO:0060155)3.43876406
50translational initiation (GO:0006413)3.43424151
51nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.42137086
52sulfation (GO:0051923)3.42006197
53detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.41385689
54nucleotide-excision repair, DNA gap filling (GO:0006297)3.41019468
55translation (GO:0006412)3.40417684
56deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.38554273
57rRNA metabolic process (GO:0016072)3.38042559
58respiratory chain complex IV assembly (GO:0008535)3.35851712
59viral life cycle (GO:0019058)3.34403482
60cellular component biogenesis (GO:0044085)3.32411574
61cellular protein complex disassembly (GO:0043624)3.31462654
62nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.30178533
63ribosome biogenesis (GO:0042254)3.28940713
64ribosome assembly (GO:0042255)3.28641520
65establishment of integrated proviral latency (GO:0075713)3.25143144
66mitochondrial respiratory chain complex I assembly (GO:0032981)3.25022574
67NADH dehydrogenase complex assembly (GO:0010257)3.25022574
68mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.25022574
69maturation of 5.8S rRNA (GO:0000460)3.24036946
70mitochondrial DNA replication (GO:0006264)3.23754052
71kinetochore assembly (GO:0051382)3.23215106
72spliceosomal snRNP assembly (GO:0000387)3.20434848
73water-soluble vitamin biosynthetic process (GO:0042364)3.19788466
74RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.19764428
75tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.19764428
76ketone body metabolic process (GO:1902224)3.19048481
77termination of RNA polymerase I transcription (GO:0006363)3.18559333
78indole-containing compound metabolic process (GO:0042430)3.16995518
79phosphatidylinositol acyl-chain remodeling (GO:0036149)3.15388024
80behavioral response to ethanol (GO:0048149)3.15154606
817-methylguanosine mRNA capping (GO:0006370)3.13883989
82DNA-dependent DNA replication (GO:0006261)3.13587996
83neural tube formation (GO:0001841)3.13143201
84transcription-coupled nucleotide-excision repair (GO:0006283)3.12812856
85RNA capping (GO:0036260)3.11424407
867-methylguanosine RNA capping (GO:0009452)3.11424407
87kidney morphogenesis (GO:0060993)3.11127496
88ubiquinone biosynthetic process (GO:0006744)3.10667050
89regulation of mitochondrial translation (GO:0070129)3.09300632
90protein complex biogenesis (GO:0070271)3.08917501
91transcription from RNA polymerase I promoter (GO:0006360)3.08185627
92DNA damage response, detection of DNA damage (GO:0042769)3.08072827
93primary amino compound metabolic process (GO:1901160)3.06863317
94macroautophagy (GO:0016236)3.06143064
95negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.05610937
96kinetochore organization (GO:0051383)3.04103667
97somite development (GO:0061053)3.02801165
98transcription elongation from RNA polymerase I promoter (GO:0006362)3.01783570
99DNA replication-independent nucleosome organization (GO:0034724)3.01176872
100DNA replication-independent nucleosome assembly (GO:0006336)3.01176872
101negative regulation of telomere maintenance (GO:0032205)3.00972919
102rRNA methylation (GO:0031167)3.00768369
103negative regulation of mast cell activation (GO:0033004)2.99461878
104epithelial cilium movement (GO:0003351)2.99286621
105neuronal action potential (GO:0019228)2.99262982
106protein import into peroxisome matrix (GO:0016558)2.97516424
107deoxyribonucleoside diphosphate metabolic process (GO:0009186)2.96834090
108nucleobase biosynthetic process (GO:0046112)2.96259235
109spliceosomal complex assembly (GO:0000245)2.96196592
110pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.95078342
111purine nucleobase biosynthetic process (GO:0009113)2.93956849
112tRNA methylation (GO:0030488)2.93481658
113cytochrome complex assembly (GO:0017004)2.93010876
114nucleobase-containing small molecule interconversion (GO:0015949)2.92259038
115mitochondrial respiratory chain complex assembly (GO:0033108)2.89901188
116fucosylation (GO:0036065)2.89728597
117pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.89656285
118regulation of double-strand break repair via homologous recombination (GO:0010569)2.89438778
119histone mRNA metabolic process (GO:0008334)2.89357364
120serotonin metabolic process (GO:0042428)2.88945680
121nonmotile primary cilium assembly (GO:0035058)2.88705825
122regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.88487257
123antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.88357480
124viral mRNA export from host cell nucleus (GO:0046784)2.87821423
125tRNA modification (GO:0006400)2.87524991
126protein polyglutamylation (GO:0018095)2.86977928
127telomere organization (GO:0032200)2.86381112
128telomere maintenance (GO:0000723)2.86371637
129positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.86061693
130ubiquinone metabolic process (GO:0006743)2.85682795
131histone exchange (GO:0043486)2.84936802
132DNA-templated transcription, termination (GO:0006353)2.84766024
133metallo-sulfur cluster assembly (GO:0031163)2.84591957
134iron-sulfur cluster assembly (GO:0016226)2.84591957
135anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.83018273
136protein complex disassembly (GO:0043241)2.81868179
137signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.81655212
138signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.81655212
139signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.81655212
140RNA methylation (GO:0001510)2.81415607
141detection of light stimulus involved in visual perception (GO:0050908)2.80207519
142detection of light stimulus involved in sensory perception (GO:0050962)2.80207519
143L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.80104583
144cornea development in camera-type eye (GO:0061303)2.80068308
145ncRNA processing (GO:0034470)2.79725761
146ATP synthesis coupled proton transport (GO:0015986)2.78322229
147energy coupled proton transport, down electrochemical gradient (GO:0015985)2.78322229
148piRNA metabolic process (GO:0034587)2.77863476
149regulation of hexokinase activity (GO:1903299)2.75575562
150regulation of glucokinase activity (GO:0033131)2.75575562
151regulation of mesoderm development (GO:2000380)2.75228672
152membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.72797708
153synaptic transmission, cholinergic (GO:0007271)2.70887310
154cilium morphogenesis (GO:0060271)2.70290780
155nephron tubule morphogenesis (GO:0072078)2.70177861
156nephron epithelium morphogenesis (GO:0072088)2.70177861
157amine catabolic process (GO:0009310)2.70157207
158cellular biogenic amine catabolic process (GO:0042402)2.70157207
159negative regulation of synaptic transmission, GABAergic (GO:0032229)2.68578815
160protein-cofactor linkage (GO:0018065)2.68221002
161regulation of action potential (GO:0098900)2.67916951
162gamma-aminobutyric acid transport (GO:0015812)2.67266552
163preassembly of GPI anchor in ER membrane (GO:0016254)2.67248157
164axoneme assembly (GO:0035082)2.66703602
165negative regulation of interleukin-1 beta production (GO:0032691)2.64714319
166cAMP catabolic process (GO:0006198)2.64663177
167mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.64658310
168cilium organization (GO:0044782)2.61473488
169negative regulation of reactive oxygen species metabolic process (GO:2000378)2.61074913
170negative regulation of interleukin-1 production (GO:0032692)2.59023283
171purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.57086300
1723-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.57086300
173auditory receptor cell stereocilium organization (GO:0060088)2.56392939
174negative regulation of transcription regulatory region DNA binding (GO:2000678)2.56304579
175multicellular organism reproduction (GO:0032504)2.56082212
176reciprocal DNA recombination (GO:0035825)2.55968062
177reciprocal meiotic recombination (GO:0007131)2.55968062
178retinal cone cell development (GO:0046549)2.53795679
179positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.53482293
180positive regulation of oligodendrocyte differentiation (GO:0048714)2.51024916
181quinone biosynthetic process (GO:1901663)2.50924666
182spinal cord motor neuron differentiation (GO:0021522)2.50859143
183regulation of hippo signaling (GO:0035330)2.50172895
184cilium assembly (GO:0042384)2.50066592
185rRNA catabolic process (GO:0016075)2.49828155
186phosphatidylserine acyl-chain remodeling (GO:0036150)2.49538943
187positive regulation of fatty acid oxidation (GO:0046321)2.49524758
188reflex (GO:0060004)2.46204720
189positive regulation of sodium ion transmembrane transport (GO:1902307)2.46091805
190negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.42973153
191negative regulation of translation, ncRNA-mediated (GO:0040033)2.42973153
192regulation of translation, ncRNA-mediated (GO:0045974)2.42973153
193negative regulation of systemic arterial blood pressure (GO:0003085)2.42118134
194exogenous drug catabolic process (GO:0042738)2.41757236
195inner ear receptor stereocilium organization (GO:0060122)2.41144302
196oxidative demethylation (GO:0070989)2.40756234
197DNA methylation involved in gamete generation (GO:0043046)2.39353262

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human6.27870930
2ZNF274_21170338_ChIP-Seq_K562_Hela4.33229307
3KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.31014123
4MYC_18555785_ChIP-Seq_MESCs_Mouse4.17318261
5* GABP_17652178_ChIP-ChIP_JURKAT_Human3.65451024
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.56806897
7* JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.54969245
8VDR_22108803_ChIP-Seq_LS180_Human3.31256049
9EZH2_22144423_ChIP-Seq_EOC_Human3.24771918
10E2F4_17652178_ChIP-ChIP_JURKAT_Human3.15120169
11ETS1_20019798_ChIP-Seq_JURKAT_Human3.13722099
12EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.11898249
13ELF1_17652178_ChIP-ChIP_JURKAT_Human2.99967406
14MYC_18358816_ChIP-ChIP_MESCs_Mouse2.94242217
15NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.90687276
16CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.87496872
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.86497773
18HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.84141578
19GBX2_23144817_ChIP-Seq_PC3_Human2.73229645
20MYC_19030024_ChIP-ChIP_MESCs_Mouse2.70114112
21* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.63938603
22CREB1_15753290_ChIP-ChIP_HEK293T_Human2.63341142
23FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.62903556
24VDR_23849224_ChIP-Seq_CD4+_Human2.62424307
25ZFP57_27257070_Chip-Seq_ESCs_Mouse2.58315581
26E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.57860365
27SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.52226879
28MYC_19079543_ChIP-ChIP_MESCs_Mouse2.48973937
29SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.39893279
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.37893260
31CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.34160449
32FOXP3_21729870_ChIP-Seq_TREG_Human2.25946164
33SRF_21415370_ChIP-Seq_HL-1_Mouse2.25339194
34DCP1A_22483619_ChIP-Seq_HELA_Human2.17834139
35XRN2_22483619_ChIP-Seq_HELA_Human2.15075615
36POU3F2_20337985_ChIP-ChIP_501MEL_Human2.13600568
37MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.08724775
38NOTCH1_21737748_ChIP-Seq_TLL_Human2.07965385
39CTBP2_25329375_ChIP-Seq_LNCAP_Human2.07304442
40CTBP1_25329375_ChIP-Seq_LNCAP_Human2.06049982
41FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.06005436
42E2F1_18555785_ChIP-Seq_MESCs_Mouse2.04959073
43* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.03289745
44ELK1_19687146_ChIP-ChIP_HELA_Human1.99430095
45NELFA_20434984_ChIP-Seq_ESCs_Mouse1.97024780
46IGF1R_20145208_ChIP-Seq_DFB_Human1.93699081
47HOXB4_20404135_ChIP-ChIP_EML_Mouse1.92400699
48FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.90742724
49YY1_21170310_ChIP-Seq_MESCs_Mouse1.89733219
50THAP11_20581084_ChIP-Seq_MESCs_Mouse1.89418348
51EWS_26573619_Chip-Seq_HEK293_Human1.88005606
52MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.87691297
53FOXM1_23109430_ChIP-Seq_U2OS_Human1.86294276
54TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.84470281
55* TTF2_22483619_ChIP-Seq_HELA_Human1.83999374
56ER_23166858_ChIP-Seq_MCF-7_Human1.83696191
57EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.83339641
58FUS_26573619_Chip-Seq_HEK293_Human1.81497952
59P300_19829295_ChIP-Seq_ESCs_Human1.81402592
60TAF15_26573619_Chip-Seq_HEK293_Human1.81368736
61GABP_19822575_ChIP-Seq_HepG2_Human1.74088225
62MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.73280784
63CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.69310753
64SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.68109144
65ERG_20887958_ChIP-Seq_HPC-7_Mouse1.67730395
66MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.64481328
67PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.64132801
68* IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.60149848
69CBX2_27304074_Chip-Seq_ESCs_Mouse1.58094082
70E2F1_21310950_ChIP-Seq_MCF-7_Human1.52809647
71TP53_22573176_ChIP-Seq_HFKS_Human1.52442698
72SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.52331057
73BCAT_22108803_ChIP-Seq_LS180_Human1.52052221
74BMI1_23680149_ChIP-Seq_NPCS_Mouse1.51459426
75ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.51206142
76PIAS1_25552417_ChIP-Seq_VCAP_Human1.50066313
77AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.49601269
78UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.49383478
79STAT3_23295773_ChIP-Seq_U87_Human1.49026988
80* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.48047322
81PCGF2_27294783_Chip-Seq_NPCs_Mouse1.43955766
82YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.43682985
83HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.43364198
84AR_25329375_ChIP-Seq_VCAP_Human1.42877457
85MYC_18940864_ChIP-ChIP_HL60_Human1.41244262
86CIITA_25753668_ChIP-Seq_RAJI_Human1.40683817
87SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.40341579
88NR3C1_21868756_ChIP-Seq_MCF10A_Human1.39438299
89SPI1_23547873_ChIP-Seq_NB4_Human1.38647802
90FOXA1_25329375_ChIP-Seq_VCAP_Human1.37083046
91FOXA1_27270436_Chip-Seq_PROSTATE_Human1.37083046
92SALL1_21062744_ChIP-ChIP_HESCs_Human1.33586255
93CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.32924709
94REST_21632747_ChIP-Seq_MESCs_Mouse1.32783811
95SOX2_19829295_ChIP-Seq_ESCs_Human1.32401755
96NANOG_19829295_ChIP-Seq_ESCs_Human1.32401755
97GATA3_21878914_ChIP-Seq_MCF-7_Human1.32293725
98PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.32289431
99TCF4_23295773_ChIP-Seq_U87_Human1.31821073
100SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.30683143
101PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.30626472
102IRF8_22096565_ChIP-ChIP_GC-B_Human1.30466905
103SMAD4_21799915_ChIP-Seq_A2780_Human1.28812454
104SUZ12_27294783_Chip-Seq_NPCs_Mouse1.27767924
105NANOG_18555785_ChIP-Seq_MESCs_Mouse1.27546269
106IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.27347648
107CBP_20019798_ChIP-Seq_JUKART_Human1.27347648
108POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.26624207
109TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26624207
110BP1_19119308_ChIP-ChIP_Hs578T_Human1.26055704
111POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.25736441
112IRF8_21731497_ChIP-ChIP_J774_Mouse1.24636288
113ETV2_25802403_ChIP-Seq_MESCs_Mouse1.23932068
114GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.23833058
115EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.23427569
116MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.22808447
117AR_20517297_ChIP-Seq_VCAP_Human1.21872339
118AR_21572438_ChIP-Seq_LNCaP_Human1.21760858
119GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.21337089
120EZH2_27294783_Chip-Seq_NPCs_Mouse1.19213064
121NFE2_27457419_Chip-Seq_LIVER_Mouse1.18385103
122* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.17943786
123TOP2B_26459242_ChIP-Seq_MCF-7_Human1.17854437
124TCF4_22108803_ChIP-Seq_LS180_Human1.17015849
125RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.16980066
126FOXA1_21572438_ChIP-Seq_LNCaP_Human1.16671877
127IRF1_19129219_ChIP-ChIP_H3396_Human1.16616855
128HOXB7_26014856_ChIP-Seq_BT474_Human1.16176677
129RUNX2_22187159_ChIP-Seq_PCA_Human1.15399681
130SMAD3_21741376_ChIP-Seq_EPCs_Human1.14830340
131NCOR_22424771_ChIP-Seq_293T_Human1.14328925
132SMAD4_21741376_ChIP-Seq_EPCs_Human1.12620726
133ELK1_22589737_ChIP-Seq_MCF10A_Human1.12099680
134PADI4_21655091_ChIP-ChIP_MCF-7_Human1.11632996
135KLF5_20875108_ChIP-Seq_MESCs_Mouse1.10807145
136ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.10671221
137CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.09369825
138CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.08735398
139NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.08241456
140RNF2_27304074_Chip-Seq_NSC_Mouse1.08057473
141FLI1_21867929_ChIP-Seq_TH2_Mouse1.06183386
142CRX_20693478_ChIP-Seq_RETINA_Mouse1.06020507
143STAT4_19710469_ChIP-ChIP_TH1__Mouse1.05309628
144MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.04225064
145ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.03843200
146SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03821192
147TAF2_19829295_ChIP-Seq_ESCs_Human1.03807984
148OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.03795863
149EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.03596630
150BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.03499267
151P53_22387025_ChIP-Seq_ESCs_Mouse1.03462962
152PRDM14_20953172_ChIP-Seq_ESCs_Human1.03065997
153TP53_16413492_ChIP-PET_HCT116_Human1.02490136
154MYC_19829295_ChIP-Seq_ESCs_Human1.02476371
155SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.02357849
156POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.02136374
157EED_16625203_ChIP-ChIP_MESCs_Mouse1.02068883
158CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.01966819
159PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.01606319
160AUTS2_25519132_ChIP-Seq_293T-REX_Human1.00559858
161ERA_21632823_ChIP-Seq_H3396_Human1.00111281
162RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.99508524
163TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.99470218
164E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.99413248
165NANOG_18555785_Chip-Seq_ESCs_Mouse0.98563636
166* KDM5A_27292631_Chip-Seq_BREAST_Human0.98199562
167AR_21909140_ChIP-Seq_LNCAP_Human0.97922838
168NANOG_20526341_ChIP-Seq_ESCs_Human0.97518769
169MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.96295861
170LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.95404955
171FLI1_27457419_Chip-Seq_LIVER_Mouse0.95144183
172CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.94653984
173TP63_19390658_ChIP-ChIP_HaCaT_Human0.93485976
174PCGF2_27294783_Chip-Seq_ESCs_Mouse0.93351994
175MYB_21317192_ChIP-Seq_ERMYB_Mouse0.85837381
176SCL_19346495_ChIP-Seq_HPC-7_Human0.85103021
177CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.84813977
178* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.82090799
179EGR1_23403033_ChIP-Seq_LIVER_Mouse0.81446257
180KAP1_22055183_ChIP-Seq_ESCs_Mouse0.80480648
181VDR_21846776_ChIP-Seq_THP-1_Human0.75854237
182TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.75668586
183CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.74934769
184CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.74713782
185RBPJ_22232070_ChIP-Seq_NCS_Mouse0.73477432
186DMRT1_21621532_ChIP-ChIP_FETAL_Ovary0.72644399
187LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.72225666

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching4.39904556
2MP0009379_abnormal_foot_pigmentation4.10228607
3MP0008057_abnormal_DNA_replication3.55094526
4MP0008058_abnormal_DNA_repair3.46498631
5MP0010094_abnormal_chromosome_stability3.29519513
6MP0003111_abnormal_nucleus_morphology3.06617209
7MP0003195_calcinosis2.89646534
8MP0006292_abnormal_olfactory_placode2.81044307
9MP0004957_abnormal_blastocyst_morpholog2.73538218
10MP0003077_abnormal_cell_cycle2.63642920
11MP0000569_abnormal_digit_pigmentation2.53336558
12MP0005075_abnormal_melanosome_morpholog2.49811230
13MP0002396_abnormal_hematopoietic_system2.46943259
14MP0001188_hyperpigmentation2.44053327
15MP0008007_abnormal_cellular_replicative2.43830284
16MP0004145_abnormal_muscle_electrophysio2.43487548
17MP0002837_dystrophic_cardiac_calcinosis2.40430514
18MP0005174_abnormal_tail_pigmentation2.40188043
19MP0008875_abnormal_xenobiotic_pharmacok2.36269010
20MP0001986_abnormal_taste_sensitivity2.34912787
21MP0005551_abnormal_eye_electrophysiolog2.30577382
22MP0001835_abnormal_antigen_presentation2.22779421
23MP0001485_abnormal_pinna_reflex2.16536407
24MP0003786_premature_aging2.10731116
25MP0004885_abnormal_endolymph2.01434827
26MP0001968_abnormal_touch/_nociception2.00604576
27MP0008932_abnormal_embryonic_tissue1.99949756
28MP0002653_abnormal_ependyma_morphology1.97935083
29MP0003724_increased_susceptibility_to1.97651623
30MP0001853_heart_inflammation1.96821603
31MP0004043_abnormal_pH_regulation1.96596969
32MP0008877_abnormal_DNA_methylation1.96238617
33MP0009785_altered_susceptibility_to1.94849514
34MP0005409_darkened_coat_color1.90183088
35MP0009046_muscle_twitch1.89325880
36MP0005377_hearing/vestibular/ear_phenot1.82061360
37MP0003878_abnormal_ear_physiology1.82061360
38MP0008872_abnormal_physiological_respon1.80957582
39MP0000427_abnormal_hair_cycle1.78744772
40MP0005671_abnormal_response_to1.77647784
41MP0003763_abnormal_thymus_physiology1.77591619
42MP0004381_abnormal_hair_follicle1.76788140
43MP0000015_abnormal_ear_pigmentation1.75831240
44MP0002148_abnormal_hypersensitivity_rea1.75772670
45MP0009745_abnormal_behavioral_response1.74320937
46MP0003186_abnormal_redox_activity1.71216366
47MP0006072_abnormal_retinal_apoptosis1.69012247
48MP0000490_abnormal_crypts_of1.68654707
49MP0002736_abnormal_nociception_after1.66765659
50MP0005646_abnormal_pituitary_gland1.66602090
51MP0005253_abnormal_eye_physiology1.65083437
52MP0004133_heterotaxia1.64809592
53MP0002095_abnormal_skin_pigmentation1.64519528
54MP0003718_maternal_effect1.58434593
55MP0002272_abnormal_nervous_system1.55731882
56MP0005025_abnormal_response_to1.52395892
57MP0001501_abnormal_sleep_pattern1.51336034
58MP0009697_abnormal_copulation1.49219790
59MP0009333_abnormal_splenocyte_physiolog1.48289212
60MP0004742_abnormal_vestibular_system1.48064007
61MP0004215_abnormal_myocardial_fiber1.48031802
62MP0003283_abnormal_digestive_organ1.47353842
63MP0001486_abnormal_startle_reflex1.46152342
64MP0000631_abnormal_neuroendocrine_gland1.43981863
65MP0003436_decreased_susceptibility_to1.43921520
66MP0000372_irregular_coat_pigmentation1.41504482
67MP0006036_abnormal_mitochondrial_physio1.40919567
68MP0005000_abnormal_immune_tolerance1.37575005
69MP0002398_abnormal_bone_marrow1.37232688
70MP0002419_abnormal_innate_immunity1.35429082
71MP0005645_abnormal_hypothalamus_physiol1.35248898
72MP0002420_abnormal_adaptive_immunity1.34149684
73MP0003646_muscle_fatigue1.33819279
74MP0000689_abnormal_spleen_morphology1.33198787
75MP0002132_abnormal_respiratory_system1.32525869
76MP0001819_abnormal_immune_cell1.32238342
77MP0004130_abnormal_muscle_cell1.32089154
78MP0002160_abnormal_reproductive_system1.31854565
79MP0002234_abnormal_pharynx_morphology1.30913822
80MP0002723_abnormal_immune_serum1.30772635
81MP0005085_abnormal_gallbladder_physiolo1.29644943
82MP0001800_abnormal_humoral_immune1.29078966
83MP0002452_abnormal_antigen_presenting1.26372259
84MP0000858_altered_metastatic_potential1.25079418
85MP0002722_abnormal_immune_system1.22948044
86MP0002928_abnormal_bile_duct1.22514697
87MP0002064_seizures1.22435873
88MP0000716_abnormal_immune_system1.21653772
89MP0002210_abnormal_sex_determination1.21004168
90MP0000685_abnormal_immune_system1.19756139
91MP0003136_yellow_coat_color1.17383926
92MP0008995_early_reproductive_senescence1.16964354
93MP0002735_abnormal_chemical_nociception1.15831261
94MP0004808_abnormal_hematopoietic_stem1.15257735
95MP0002019_abnormal_tumor_incidence1.14796508
96MP0002429_abnormal_blood_cell1.14187971
97MP0002277_abnormal_respiratory_mucosa1.14184007
98MP0002572_abnormal_emotion/affect_behav1.13610249
99MP0008775_abnormal_heart_ventricle1.13389434
100MP0010386_abnormal_urinary_bladder1.13122318
101MP0000230_abnormal_systemic_arterial1.12550567
102MP0005084_abnormal_gallbladder_morpholo1.12538248
103MP0001764_abnormal_homeostasis1.12484349
104MP0006276_abnormal_autonomic_nervous1.11975899
105MP0003941_abnormal_skin_development1.11796645
106MP0003787_abnormal_imprinting1.09853458
107MP0000703_abnormal_thymus_morphology1.08918926
108MP0002557_abnormal_social/conspecific_i1.08052004
109MP0005171_absent_coat_pigmentation1.06084595
110MP0001970_abnormal_pain_threshold1.05706387
111MP0002733_abnormal_thermal_nociception1.05339521
112MP0003137_abnormal_impulse_conducting1.05077513
113MP0004924_abnormal_behavior1.04976268
114MP0005386_behavior/neurological_phenoty1.04976268
115MP0005195_abnormal_posterior_eye1.04515805
116MP0000313_abnormal_cell_death1.04427560
117MP0002067_abnormal_sensory_capabilities1.04065933
118MP0003880_abnormal_central_pattern1.03834497
119MP0002006_tumorigenesis1.03779936
120MP0000383_abnormal_hair_follicle1.03743520
121MP0000026_abnormal_inner_ear1.03379288
122MP0002102_abnormal_ear_morphology1.01843116
123MP0000566_synostosis1.00388475
124MP0003806_abnormal_nucleotide_metabolis1.00218598
125MP0005389_reproductive_system_phenotype0.99528696
126MP0001119_abnormal_female_reproductive0.97290222
127MP0005167_abnormal_blood-brain_barrier0.95672948
128MP0006035_abnormal_mitochondrial_morpho0.95384255
129MP0001145_abnormal_male_reproductive0.95159759
130MP0000613_abnormal_salivary_gland0.95037492
131MP0001929_abnormal_gametogenesis0.94161951
132MP0001529_abnormal_vocalization0.93713743
133MP0005464_abnormal_platelet_physiology0.92071689
134MP0005332_abnormal_amino_acid0.91949250
135MP0008469_abnormal_protein_level0.91574063
136MP0002938_white_spotting0.89841795
137MP0004147_increased_porphyrin_level0.89122105
138MP0001984_abnormal_olfaction0.88229076
139MP0002163_abnormal_gland_morphology0.87163122
140MP0003119_abnormal_digestive_system0.86462558
141MP0001905_abnormal_dopamine_level0.86452133
142MP0000647_abnormal_sebaceous_gland0.85335045
143MP0001186_pigmentation_phenotype0.85284613
144MP0002876_abnormal_thyroid_physiology0.85223733
145MP0000653_abnormal_sex_gland0.85199736
146MP0005448_abnormal_energy_balance0.85022482
147MP0000538_abnormal_urinary_bladder0.84582808
148MP0001324_abnormal_eye_pigmentation0.84251449
149MP0000350_abnormal_cell_proliferation0.83652911
150MP0001663_abnormal_digestive_system0.83569951
151MP0001545_abnormal_hematopoietic_system0.81957043
152MP0005397_hematopoietic_system_phenotyp0.81957043
153MP0002063_abnormal_learning/memory/cond0.81850369
154MP0002075_abnormal_coat/hair_pigmentati0.81606108
155MP0001790_abnormal_immune_system0.81175111
156MP0005387_immune_system_phenotype0.81175111
157MP0004019_abnormal_vitamin_homeostasis0.80939794
158MP0010329_abnormal_lipoprotein_level0.80884689
159MP0002405_respiratory_system_inflammati0.80316194
160MP0002752_abnormal_somatic_nervous0.79799567
161MP0001963_abnormal_hearing_physiology0.78578260
162MP0001845_abnormal_inflammatory_respons0.78470627
163MP0003252_abnormal_bile_duct0.78393945
164MP0005187_abnormal_penis_morphology0.78136307
165MP0005365_abnormal_bile_salt0.77199199
166MP0002693_abnormal_pancreas_physiology0.76110402
167MP0001919_abnormal_reproductive_system0.75808055
168MP0002166_altered_tumor_susceptibility0.75597298
169MP0005379_endocrine/exocrine_gland_phen0.74963832
170MP0000470_abnormal_stomach_morphology0.74870110
171MP0001293_anophthalmia0.74050190
172MP0009764_decreased_sensitivity_to0.71932994
173MP0004142_abnormal_muscle_tone0.71293206
174MP0000681_abnormal_thyroid_gland0.69400582
175MP0002638_abnormal_pupillary_reflex0.67120074
176MP0003011_delayed_dark_adaptation0.66521367
177MP0010155_abnormal_intestine_physiology0.65923325
178MP0000465_gastrointestinal_hemorrhage0.65544693
179MP0005408_hypopigmentation0.64371232

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of midbrain morphology (HP:0002418)4.61105200
2Molar tooth sign on MRI (HP:0002419)4.61105200
3Reticulocytopenia (HP:0001896)4.54561398
4Abnormality of cells of the erythroid lineage (HP:0012130)4.24770369
5Reduced antithrombin III activity (HP:0001976)4.24328239
6Muscle abnormality related to mitochondrial dysfunction (HP:0003800)4.14035950
7Abnormality of alanine metabolism (HP:0010916)4.12311523
8Hyperalaninemia (HP:0003348)4.12311523
9Abnormality of pyruvate family amino acid metabolism (HP:0010915)4.12311523
10Pancreatic fibrosis (HP:0100732)4.11250862
11Abnormal number of erythroid precursors (HP:0012131)4.09906458
12Type I transferrin isoform profile (HP:0003642)3.98918535
13Nephronophthisis (HP:0000090)3.91384350
14True hermaphroditism (HP:0010459)3.88111109
15Congenital stationary night blindness (HP:0007642)3.81581742
16Birth length less than 3rd percentile (HP:0003561)3.76070233
17Abnormality of the renal cortex (HP:0011035)3.73040999
18Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.65728640
19Aplastic anemia (HP:0001915)3.57166891
20Chromosomal breakage induced by crosslinking agents (HP:0003221)3.53659543
21Chromsome breakage (HP:0040012)3.52327473
22Abnormality of the renal medulla (HP:0100957)3.45864950
23Type II lissencephaly (HP:0007260)3.39625073
24Macrocytic anemia (HP:0001972)3.32026496
25Microvesicular hepatic steatosis (HP:0001414)3.29925348
26Hepatocellular necrosis (HP:0001404)3.13786893
27Tubular atrophy (HP:0000092)3.12863492
28Mitochondrial inheritance (HP:0001427)3.10868931
29Large for gestational age (HP:0001520)3.08494342
30Increased hepatocellular lipid droplets (HP:0006565)3.03930622
313-Methylglutaconic aciduria (HP:0003535)3.02980925
32Pallor (HP:0000980)3.01079180
33Progressive external ophthalmoplegia (HP:0000590)2.99952096
34Hyperventilation (HP:0002883)2.98930197
35Hepatic necrosis (HP:0002605)2.96117849
36Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.95510731
37Decreased activity of mitochondrial respiratory chain (HP:0008972)2.95510731
38Concave nail (HP:0001598)2.94210275
39IgM deficiency (HP:0002850)2.92438477
40Acute necrotizing encephalopathy (HP:0006965)2.89583957
41Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.89247239
42Abnormal protein N-linked glycosylation (HP:0012347)2.89247239
43Abnormal protein glycosylation (HP:0012346)2.89247239
44Abnormal glycosylation (HP:0012345)2.89247239
45Increased CSF lactate (HP:0002490)2.88966035
46Exertional dyspnea (HP:0002875)2.88108168
47Congenital, generalized hypertrichosis (HP:0004540)2.87918121
48Type 2 muscle fiber atrophy (HP:0003554)2.85220806
49Abnormality of the preputium (HP:0100587)2.84227963
50Increased serum lactate (HP:0002151)2.83982692
51Abnormality of chromosome stability (HP:0003220)2.80161379
52Chronic hepatic failure (HP:0100626)2.77892177
53Meckel diverticulum (HP:0002245)2.75145044
54Furrowed tongue (HP:0000221)2.74995472
55Cystic liver disease (HP:0006706)2.73802250
56Medial flaring of the eyebrow (HP:0010747)2.71754143
57Inability to walk (HP:0002540)2.70783551
58Abolished electroretinogram (ERG) (HP:0000550)2.67613527
59Oral leukoplakia (HP:0002745)2.67324095
60Aplasia/Hypoplasia of the sacrum (HP:0008517)2.67219045
61Abnormal drinking behavior (HP:0030082)2.66164394
62Polydipsia (HP:0001959)2.66164394
63Lipid accumulation in hepatocytes (HP:0006561)2.65985228
64Breast hypoplasia (HP:0003187)2.65218545
65Pendular nystagmus (HP:0012043)2.65188216
66Renal Fanconi syndrome (HP:0001994)2.64091343
67Muscle fiber atrophy (HP:0100295)2.63190055
68Decreased circulating renin level (HP:0003351)2.62985933
69Exercise intolerance (HP:0003546)2.62035484
70Abnormality of the ileum (HP:0001549)2.60290151
71Progressive inability to walk (HP:0002505)2.57537153
72Granulocytopenia (HP:0001913)2.55308336
73Abnormal mitochondria in muscle tissue (HP:0008316)2.54772359
74Dynein arm defect of respiratory motile cilia (HP:0012255)2.54414746
75Absent/shortened dynein arms (HP:0200106)2.54414746
76Pancytopenia (HP:0001876)2.54291447
77Severe visual impairment (HP:0001141)2.50260652
78Elevated erythrocyte sedimentation rate (HP:0003565)2.49094869
79Increased corneal curvature (HP:0100692)2.49041183
80Keratoconus (HP:0000563)2.49041183
81Duplicated collecting system (HP:0000081)2.48425988
82Thrombocytosis (HP:0001894)2.45917620
83Cerebellar dysplasia (HP:0007033)2.44672192
84Abnormal spermatogenesis (HP:0008669)2.43027260
85Sclerocornea (HP:0000647)2.40112951
86Aplasia/Hypoplasia of the uvula (HP:0010293)2.38591734
87Clubbing of toes (HP:0100760)2.38017776
88Absent thumb (HP:0009777)2.37144001
89Myositis (HP:0100614)2.35326307
90Bone marrow hypocellularity (HP:0005528)2.35097526
91Lissencephaly (HP:0001339)2.34508084
92Abnormality of the renal collecting system (HP:0004742)2.34440571
93Aplasia/Hypoplasia of the patella (HP:0006498)2.33365005
94* Attenuation of retinal blood vessels (HP:0007843)2.31065218
95Aplasia/Hypoplasia of the tibia (HP:0005772)2.30839017
96Lactic acidosis (HP:0003128)2.30826143
97Abnormality of secondary sexual hair (HP:0009888)2.28396120
98Abnormality of the axillary hair (HP:0100134)2.28396120
99Increased intramyocellular lipid droplets (HP:0012240)2.26716249
100Acute encephalopathy (HP:0006846)2.26706499
101Severe muscular hypotonia (HP:0006829)2.23530923
102Progressive muscle weakness (HP:0003323)2.22410480
103Chorioretinal atrophy (HP:0000533)2.21045416
104Anencephaly (HP:0002323)2.20992003
105Triphalangeal thumb (HP:0001199)2.20919797
106Abnormality of the pons (HP:0007361)2.20114347
107Polyuria (HP:0000103)2.19111795
108Congenital hepatic fibrosis (HP:0002612)2.18833561
109Progressive macrocephaly (HP:0004481)2.17481953
110Azoospermia (HP:0000027)2.16217380
111Respiratory difficulties (HP:0002880)2.15446975
112Absent rod-and cone-mediated responses on ERG (HP:0007688)2.15055659
113Abnormality of DNA repair (HP:0003254)2.13478057
114Bile duct proliferation (HP:0001408)2.11950489
115Abnormal biliary tract physiology (HP:0012439)2.11950489
116Aplasia/Hypoplasia of the tongue (HP:0010295)2.11855007
117Progressive cerebellar ataxia (HP:0002073)2.09690964
118Premature graying of hair (HP:0002216)2.09083026
119Rough bone trabeculation (HP:0100670)2.06188484
120Proximal tubulopathy (HP:0000114)2.06080021
121Hypoplasia of the pons (HP:0012110)2.05698466
122Abnormal rod and cone electroretinograms (HP:0008323)2.05355532
123Broad-based gait (HP:0002136)2.04098428
124Gait imbalance (HP:0002141)2.02181569
125Gaze-evoked nystagmus (HP:0000640)2.00476520
126Pachygyria (HP:0001302)1.99679786
127Fair hair (HP:0002286)1.99389590
128Pulmonary fibrosis (HP:0002206)1.97330174
129Congenital primary aphakia (HP:0007707)1.97191954
130Male pseudohermaphroditism (HP:0000037)1.96655993
131Stomach cancer (HP:0012126)1.95961593
132Myelodysplasia (HP:0002863)1.95301407
133Decreased central vision (HP:0007663)1.94256081
134Cleft eyelid (HP:0000625)1.92584576
135Abnormality of the prostate (HP:0008775)1.92196932
136Clumsiness (HP:0002312)1.91800443
137Lymphoma (HP:0002665)1.91773839
138IgG deficiency (HP:0004315)1.91608361
139Microretrognathia (HP:0000308)1.91531070
140Sparse eyelashes (HP:0000653)1.91407175
141Tachypnea (HP:0002789)1.89592526
142Nephrogenic diabetes insipidus (HP:0009806)1.88549438
14311 pairs of ribs (HP:0000878)1.88305977
144Acute lymphatic leukemia (HP:0006721)1.88005075
145Congenital sensorineural hearing impairment (HP:0008527)1.87503254
146Protruding tongue (HP:0010808)1.86507828
147Abnormal respiratory epithelium morphology (HP:0012253)1.86127184
148Abnormal respiratory motile cilium morphology (HP:0005938)1.86127184
149Increased muscle lipid content (HP:0009058)1.85882946
150Abnormality of pyrimidine metabolism (HP:0004353)1.84973139
151Eosinophilia (HP:0001880)1.84158763
152Decreased electroretinogram (ERG) amplitude (HP:0000654)1.84095961
153Renal cortical cysts (HP:0000803)1.83712147
154Abnormality of the columella (HP:0009929)1.81441802
155Ketoacidosis (HP:0001993)1.81294002
156* Optic disc pallor (HP:0000543)1.80965540
157Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.79895390
158Carpal bone hypoplasia (HP:0001498)1.79478793
159Respiratory failure (HP:0002878)1.79150970
160Tubulointerstitial fibrosis (HP:0005576)1.78326842
161Partial agenesis of the corpus callosum (HP:0001338)1.78065708
162Cerebral edema (HP:0002181)1.77872521
163Chronic obstructive pulmonary disease (HP:0006510)1.77237654
164Obstructive lung disease (HP:0006536)1.77237654
165Pancreatic cysts (HP:0001737)1.77101966
166Ketosis (HP:0001946)1.77032735
167Genetic anticipation (HP:0003743)1.76700151
168Recurrent abscess formation (HP:0002722)1.75995948
169Thyroid-stimulating hormone excess (HP:0002925)1.75980598
170Petechiae (HP:0000967)1.75803399
171Poor head control (HP:0002421)1.75632340
172Patellar aplasia (HP:0006443)1.75587219
173Optic nerve hypoplasia (HP:0000609)1.75582262
174Retrobulbar optic neuritis (HP:0100654)1.75407050
175Optic neuritis (HP:0100653)1.75407050
176Metabolic alkalosis (HP:0200114)1.73766203
177Abnormal urine output (HP:0012590)1.73759612
178Mesangial abnormality (HP:0001966)1.72332599
179Retinal dysplasia (HP:0007973)1.72298360
180Supernumerary spleens (HP:0009799)1.71858949
181Bilateral microphthalmos (HP:0007633)1.71013642
182Abnormal ciliary motility (HP:0012262)1.69868668
183Short tibia (HP:0005736)1.69762432
184Postaxial foot polydactyly (HP:0001830)1.68762488
185Prolonged QT interval (HP:0001657)1.68752390

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.03724710
2INSRR5.01177906
3STK164.47947661
4IRAK33.97702285
5EIF2AK33.74270590
6EIF2AK13.11887352
7BUB13.11538018
8IRAK43.02933866
9PLK42.88789389
10WEE12.86522348
11TNIK2.67170629
12SRPK12.61384520
13WNK42.57585948
14NME22.52822577
15VRK12.45622282
16GRK12.40846577
17ZAK2.13946247
18MKNK22.12370163
19WNK32.01541346
20TLK11.98352092
21OBSCN1.89540162
22NUAK11.87211478
23IRAK21.75279117
24MAP4K21.73144272
25EIF2AK21.72986846
26CDC71.71952548
27TAOK31.71521842
28IRAK11.70847850
29ACVR1B1.68615577
30MKNK11.68316813
31PIM21.65640865
32STK391.59315417
33TEC1.58595619
34OXSR11.57519124
35MAPK131.51907935
36ADRBK11.50817283
37PNCK1.48198535
38MAP3K41.45984414
39BLK1.45602761
40BRSK21.38812947
41PHKG11.37694058
42PHKG21.37694058
43TESK21.33955701
44DYRK31.30956854
45DAPK21.29598122
46CDK81.25892901
47NLK1.22614863
48KIT1.21659722
49MUSK1.21121139
50TXK1.19036544
51PAK31.18919657
52CDK71.18027571
53MAPK151.13293249
54CASK1.09418209
55PBK1.09100117
56MARK11.08664109
57PLK11.03366280
58PIK3CA1.00871329
59ATR1.00693002
60CCNB10.95723415
61FLT30.95531596
62BTK0.95434430
63PINK10.94449202
64BMPR1B0.91979947
65TTK0.91418206
66KDR0.90270342
67PTK2B0.89519116
68PRKCG0.88779588
69ADRBK20.84591824
70PRKCE0.83268312
71MAP2K70.81921448
72MAPKAPK30.80957429
73YES10.80358474
74AURKB0.79774866
75TRPM70.78671457
76NEK90.77070251
77STK40.73932703
78MAP4K10.73815102
79CDK190.73535918
80FES0.72634740
81BRSK10.71778960
82MAP3K120.71352523
83CHEK20.71015499
84TSSK60.70277959
85IKBKB0.69251254
86NTRK30.69127705
87ABL20.68234599
88PRKCQ0.67335031
89RPS6KA40.67276653
90CLK10.66913802
91MYLK0.66597718
92MST40.65962478
93PIM10.64858023
94BCKDK0.64559829
95TIE10.63473835
96NME10.61452323
97PLK30.61387376
98AURKA0.60922703
99RPS6KB20.60007805
100IKBKE0.59979082
101PIK3CG0.59875403
102PKN10.58506912
103MAP3K140.57665912
104CSNK2A10.57593760
105LYN0.57027840
106CSNK1G20.55275822
107MAP2K20.53055155
108CAMK2A0.52873008
109RPS6KA60.51729842
110CAMK10.51106944
111STK240.51081722
112TYK20.51067231
113CAMK1D0.50870635
114STK110.50175108
115CSF1R0.49858384
116PRKACA0.49743753
117CHUK0.49208723
118PRKAA20.48961881
119ITK0.47679948
120MAP2K10.46761903
121DYRK20.46590929
122EPHA30.45584090
123STK38L0.45325682
124NEK20.45174472
125NTRK20.44923026
126CSNK2A20.44540743
127LIMK10.44373725
128CAMKK20.43698864
129PRKCZ0.43550047
130RPS6KA50.42964598
131SYK0.42112708
132MAPK40.41762317
133MAPKAPK50.41411415
134PRKG10.41099167
135CDK40.40419196
136LCK0.39927359
137PRKCI0.39690018
138MAP2K40.39625086
139CHEK10.38529879
140PRKAA10.37776028
141JAK30.37045762
142GRK70.36805695
143TBK10.36391897
144NEK60.34873336
145PLK20.34868832
146MAP3K110.34435879
147BRAF0.33400002
148* PRKCA0.33212344
149STK30.31944966
150CSNK1G10.31516179
151ZAP700.31258536
152MAP2K30.31117263
153TRIM280.31018541
154ATM0.30960977
155SCYL20.30790315
156MAP2K60.30468917
157TGFBR10.30058531
158CSNK1A10.29376349
159CAMK1G0.29246566
160ERBB30.29171745
161CAMK40.28737597
162CSNK1G30.28434147
163CSNK1A1L0.28309278
164BMPR20.27205079
165PRKCH0.26476622
166CSNK1D0.26456185
167MATK0.26150310
168PRKACB0.25076421

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030304.62213210
2Ribosome_Homo sapiens_hsa030104.61568321
3RNA polymerase_Homo sapiens_hsa030203.60480375
4Mismatch repair_Homo sapiens_hsa034303.54551074
5Taurine and hypotaurine metabolism_Homo sapiens_hsa004303.54171871
6Proteasome_Homo sapiens_hsa030503.39346153
7Homologous recombination_Homo sapiens_hsa034403.16513898
8Nitrogen metabolism_Homo sapiens_hsa009103.07032493
9Pyrimidine metabolism_Homo sapiens_hsa002402.91114534
10alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.83882758
11Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.80474906
12Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.72139274
13Spliceosome_Homo sapiens_hsa030402.59111888
14Fanconi anemia pathway_Homo sapiens_hsa034602.58009365
15Base excision repair_Homo sapiens_hsa034102.46716148
16Nucleotide excision repair_Homo sapiens_hsa034202.44990033
17Butanoate metabolism_Homo sapiens_hsa006502.43831112
18Maturity onset diabetes of the young_Homo sapiens_hsa049502.27747592
19Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.26309843
20Non-homologous end-joining_Homo sapiens_hsa034502.24320770
21Phototransduction_Homo sapiens_hsa047442.21403618
22Protein export_Homo sapiens_hsa030602.13805281
23Tryptophan metabolism_Homo sapiens_hsa003802.03889525
24One carbon pool by folate_Homo sapiens_hsa006701.97156246
25Basal transcription factors_Homo sapiens_hsa030221.92855635
26Ether lipid metabolism_Homo sapiens_hsa005651.90982074
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.89621158
28Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.86904460
29Caffeine metabolism_Homo sapiens_hsa002321.82219063
30Oxidative phosphorylation_Homo sapiens_hsa001901.73711161
31Nicotine addiction_Homo sapiens_hsa050331.71839999
32RNA transport_Homo sapiens_hsa030131.71063608
33RNA degradation_Homo sapiens_hsa030181.65381347
34Cardiac muscle contraction_Homo sapiens_hsa042601.64790067
35Purine metabolism_Homo sapiens_hsa002301.62404817
36Parkinsons disease_Homo sapiens_hsa050121.60007377
37Cell cycle_Homo sapiens_hsa041101.50745080
38Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.46555701
39Folate biosynthesis_Homo sapiens_hsa007901.43389305
40Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.38696272
41Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.34795032
42Huntingtons disease_Homo sapiens_hsa050161.34502092
43ABC transporters_Homo sapiens_hsa020101.26011954
44Taste transduction_Homo sapiens_hsa047421.21141541
45Morphine addiction_Homo sapiens_hsa050321.15267321
46Propanoate metabolism_Homo sapiens_hsa006401.14506846
47Olfactory transduction_Homo sapiens_hsa047401.13812131
48p53 signaling pathway_Homo sapiens_hsa041151.13407915
49Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.11442765
50Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.11079706
51Sulfur relay system_Homo sapiens_hsa041221.10713681
52Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.08830966
53Primary bile acid biosynthesis_Homo sapiens_hsa001201.08769900
54Primary immunodeficiency_Homo sapiens_hsa053401.07930359
55Herpes simplex infection_Homo sapiens_hsa051681.01283229
56Sulfur metabolism_Homo sapiens_hsa009200.96498496
57Insulin secretion_Homo sapiens_hsa049110.94449640
58Ovarian steroidogenesis_Homo sapiens_hsa049130.93825493
59Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.92954166
60Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.92062974
61* Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.88849989
62Mineral absorption_Homo sapiens_hsa049780.88620309
63Fat digestion and absorption_Homo sapiens_hsa049750.87435502
64Alzheimers disease_Homo sapiens_hsa050100.86581454
65Serotonergic synapse_Homo sapiens_hsa047260.85591185
66Epstein-Barr virus infection_Homo sapiens_hsa051690.84117624
67Drug metabolism - other enzymes_Homo sapiens_hsa009830.83401110
68RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.83395110
69Glutathione metabolism_Homo sapiens_hsa004800.83108611
70Cyanoamino acid metabolism_Homo sapiens_hsa004600.82098082
71Circadian entrainment_Homo sapiens_hsa047130.80520015
72Pentose phosphate pathway_Homo sapiens_hsa000300.79232414
73Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.78112536
74Glycerolipid metabolism_Homo sapiens_hsa005610.77412903
75Allograft rejection_Homo sapiens_hsa053300.76898155
76NF-kappa B signaling pathway_Homo sapiens_hsa040640.76180278
77GABAergic synapse_Homo sapiens_hsa047270.75731168
78Systemic lupus erythematosus_Homo sapiens_hsa053220.75127199
79Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.75008440
80Calcium signaling pathway_Homo sapiens_hsa040200.73462380
81Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.72888957
82mRNA surveillance pathway_Homo sapiens_hsa030150.72797777
83Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.72492177
84Glutamatergic synapse_Homo sapiens_hsa047240.71447862
85Cysteine and methionine metabolism_Homo sapiens_hsa002700.68594871
86Arachidonic acid metabolism_Homo sapiens_hsa005900.66001438
87Graft-versus-host disease_Homo sapiens_hsa053320.64885582
88Vascular smooth muscle contraction_Homo sapiens_hsa042700.63899717
89Measles_Homo sapiens_hsa051620.62842139
90* Metabolic pathways_Homo sapiens_hsa011000.62266677
91Collecting duct acid secretion_Homo sapiens_hsa049660.60704311
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.60667221
93Intestinal immune network for IgA production_Homo sapiens_hsa046720.60655832
94Antigen processing and presentation_Homo sapiens_hsa046120.59668598
95N-Glycan biosynthesis_Homo sapiens_hsa005100.59555983
96Vitamin B6 metabolism_Homo sapiens_hsa007500.56373422
97Fatty acid elongation_Homo sapiens_hsa000620.55834235
98Dorso-ventral axis formation_Homo sapiens_hsa043200.55756802
99Hematopoietic cell lineage_Homo sapiens_hsa046400.54407137
100Other glycan degradation_Homo sapiens_hsa005110.54406878
101Asthma_Homo sapiens_hsa053100.52507771
102Salivary secretion_Homo sapiens_hsa049700.49126694
103Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.47080889
104Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.46956646
105Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.46749438
106Fatty acid biosynthesis_Homo sapiens_hsa000610.45935603
107NOD-like receptor signaling pathway_Homo sapiens_hsa046210.44391409
108Peroxisome_Homo sapiens_hsa041460.43610224
109SNARE interactions in vesicular transport_Homo sapiens_hsa041300.42957669
110Fatty acid degradation_Homo sapiens_hsa000710.42732924
111beta-Alanine metabolism_Homo sapiens_hsa004100.42052307
112Autoimmune thyroid disease_Homo sapiens_hsa053200.40753992
113Circadian rhythm_Homo sapiens_hsa047100.40261403
114Retinol metabolism_Homo sapiens_hsa008300.38665704
115Basal cell carcinoma_Homo sapiens_hsa052170.37508132
116Hedgehog signaling pathway_Homo sapiens_hsa043400.37192388
117Steroid hormone biosynthesis_Homo sapiens_hsa001400.36519395
118Pentose and glucuronate interconversions_Homo sapiens_hsa000400.36300088
119Legionellosis_Homo sapiens_hsa051340.35384723
120Vitamin digestion and absorption_Homo sapiens_hsa049770.35170023
121Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.34767676
122Regulation of autophagy_Homo sapiens_hsa041400.34535301
123Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.34402770
124Dopaminergic synapse_Homo sapiens_hsa047280.33222146
125Cocaine addiction_Homo sapiens_hsa050300.32913050
126Leishmaniasis_Homo sapiens_hsa051400.32026439
127Renin-angiotensin system_Homo sapiens_hsa046140.31239590
128Type I diabetes mellitus_Homo sapiens_hsa049400.30650758
129Oxytocin signaling pathway_Homo sapiens_hsa049210.30056840
130Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.29877450
131Linoleic acid metabolism_Homo sapiens_hsa005910.28041846
132Biosynthesis of amino acids_Homo sapiens_hsa012300.27804731
133Thyroid cancer_Homo sapiens_hsa052160.27794113
134Long-term depression_Homo sapiens_hsa047300.27590793
135Sphingolipid metabolism_Homo sapiens_hsa006000.27511189
136cAMP signaling pathway_Homo sapiens_hsa040240.26680307
137Cholinergic synapse_Homo sapiens_hsa047250.26582792
138Glycerophospholipid metabolism_Homo sapiens_hsa005640.26500558
139Arginine and proline metabolism_Homo sapiens_hsa003300.26066039
140Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.26023834
141Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.25100587
142Influenza A_Homo sapiens_hsa051640.24950980
143Bile secretion_Homo sapiens_hsa049760.24927037
144Galactose metabolism_Homo sapiens_hsa000520.24506627
145Pertussis_Homo sapiens_hsa051330.23197259
146Transcriptional misregulation in cancer_Homo sapiens_hsa052020.22917562
147Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.22163692
148Selenocompound metabolism_Homo sapiens_hsa004500.21201412
149Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.20686963
150Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.18926381
151Chemical carcinogenesis_Homo sapiens_hsa052040.18773165
152Histidine metabolism_Homo sapiens_hsa003400.18427079
153Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.18407199
154Jak-STAT signaling pathway_Homo sapiens_hsa046300.18368920
155Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.18333914

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